Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the face (HP:0000271)help
Parent Node:
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Abnormal facial shape (HP:0001999)help
..Starting node
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Small face (HP:0000274)help
Term ID: 274
Name: Small face
Synonym: Facial hypoplasia; Hypoplasia of face; Microface; Microfacies; Short and narrow face; Small face; Small facies
Definition: A face that is short (HP:0011219) and narrow (HP:0000275).
Comments:
Reference: HP:0000274
Genes and Diseases:
 
       Child Nodes:
........expandNarrow face (HP:0000275) help
........expandShort face (HP:0011219) help

 Sister Nodes: 
..expandBird-like facies (HP:0000320) help
..expandCoarse facial features (HP:0000280) help
..expandCraniofacial disproportion (HP:0005461) help
..expandDoll-like facies (HP:0000295) help
..expandElfin facies (HP:0004428) help
..expandFacial asymmetry (HP:0000324) help
..expandFacial shape deformation (HP:0011334) help
..expandFlat face (HP:0012368) help
..expandLarge face (HP:0100729) help
..expandMoon facies (HP:0500011) help
..expandobsolete Abnormality of the shape of the midface (HP:0430026) help
..expandOval face (HP:0000300) help
..expandRound face (HP:0000311) help
..expandSquare face (HP:0000321) help
..expandTriangular face (HP:0000325) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000274HP:0000274Small face0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathy96
HP:0000274HP:0000274Small face0ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion96
HP:0000274HP:0000274Small face0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0000274HP:0000274Small face0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0000274HP:0000274Small face0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0000274HP:0000274Small face0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0000274HP:0000274Small face0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome192
HP:0000274HP:0000274Small face0ATR CL E G H545882ORPHA:808Seckel syndrome168
HP:0000274HP:0000274Small face0ATRIP CL E G H8412633499ORPHA:808Seckel syndrome1
HP:0000274HP:0000274Small face0AXIN2 CL E G H8313904ORPHA:99798Oligodontia435
HP:0000274HP:0000274Small face0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000274HP:0000274Small face0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 1.29
HP:0000274HP:0000274Small face0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0000274HP:0000274Small face0BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndrome101
HP:0000274HP:0000274Small face0BLM CL E G H6411058OMIM:210900Bloom syndrome314
HP:0000274HP:0000274Small face0BLM CL E G H6411058ORPHA:125Bloom syndrome314
HP:0000274HP:0000274Small face0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0CENPE CL E G H10621856ORPHA:808Seckel syndrome20
HP:0000274HP:0000274Small face0CENPJ CL E G H5583517272ORPHA:808Seckel syndrome161
HP:0000274HP:0000274Small face0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000274HP:0000274Small face0CEP152 CL E G H2299529298ORPHA:808Seckel syndrome146
HP:0000274HP:0000274Small face0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0000274HP:0000274Small face0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000274HP:0000274Small face0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0000274HP:0000274Small face0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000274HP:0000274Small face0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000274HP:0000274Small face0DDX11 CL E G H16632736OMIM:613398Warsaw breakage syndrome.13
HP:0000274HP:0000274Small face0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 2313
HP:0000274HP:0000274Small face0EDA CL E G H18963157ORPHA:99798Oligodontia115
HP:0000274HP:0000274Small face0EDARADD CL E G H12817814341ORPHA:99798Oligodontia56
HP:0000274HP:0000274Small face0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000274HP:0000274Small face0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0000274HP:0000274Small face0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0000274HP:0000274Small face0EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000274HP:0000274Small face0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000274HP:0000274Small face0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)384
HP:0000274HP:0000274Small face0FGFR1 CL E G H22603688ORPHA:99798Oligodontia172
HP:0000274HP:0000274Small face0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0000274HP:0000274Small face0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0000274HP:0000274Small face0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0000274HP:0000274Small face0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0000274HP:0000274Small face0GHR CL E G H26904263OMIM:262500Laron syndrome.98
HP:0000274HP:0000274Small face0GRHL3 CL E G H5782225839ORPHA:99772Cleft velum12
HP:0000274HP:0000274Small face0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000274HP:0000274Small face0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000274HP:0000274Small face0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000274HP:0000274Small face0HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia
HP:0000274HP:0000274Small face0INSR CL E G H36436091OMIM:246200Donohue syndrome.229
HP:0000274HP:0000274Small face0IRF6 CL E G H36646121ORPHA:99798Oligodontia99
HP:0000274HP:0000274Small face0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathy80
HP:0000274HP:0000274Small face0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathy13
HP:0000274HP:0000274Small face0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0000274HP:0000274Small face0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0000274HP:0000274Small face0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndrome645
HP:0000274HP:0000274Small face0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0000274HP:0000274Small face0LRP6 CL E G H40406698ORPHA:99798Oligodontia26
HP:0000274HP:0000274Small face0MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000274HP:0000274Small face0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000274HP:0000274Small face0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndrome228
HP:0000274HP:0000274Small face0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000274HP:0000274Small face0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000274HP:0000274Small face0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000274HP:0000274Small face0MSX1 CL E G H44877391ORPHA:99798Oligodontia12
HP:0000274HP:0000274Small face0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0000274HP:0000274Small face0MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndrome166
HP:0000274HP:0000274Small face0MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion1269
HP:0000274HP:0000274Small face0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathy217
HP:0000274HP:0000274Small face0NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndrome48
HP:0000274HP:0000274Small face0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000274HP:0000274Small face0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathy745
HP:0000274HP:0000274Small face0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0000274HP:0000274Small face0NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndrome40
HP:0000274HP:0000274Small face0NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0000274HP:0000274Small face0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000274HP:0000274Small face0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0000274HP:0000274Small face0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000274HP:0000274Small face0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndrome144
HP:0000274HP:0000274Small face0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0000274HP:0000274Small face0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000274HP:0000274Small face0NSDHL CL E G H5081413398ORPHA:251383CK syndrome34
HP:0000274HP:0000274Small face0NSDHL CL E G H5081413398OMIM:300831Ck syndrome34
HP:0000274HP:0000274Small face0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0000274HP:0000274Small face0NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 584
HP:0000274HP:0000274Small face0NUP85 CL E G H799028734ORPHA:808Seckel syndrome
HP:0000274HP:0000274Small face0PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndrome59
HP:0000274HP:0000274Small face0PAX9 CL E G H50838623ORPHA:99798Oligodontia58
HP:0000274HP:0000274Small face0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay3
HP:0000274HP:0000274Small face0PCNT CL E G H511616068ORPHA:808Seckel syndrome531
HP:0000274HP:0000274Small face0PLK4 CL E G H1073311397ORPHA:808Seckel syndrome11
HP:0000274HP:0000274Small face0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndrome
HP:0000274HP:0000274Small face0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndrome38
HP:0000274HP:0000274Small face0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndrome31
HP:0000274HP:0000274Small face0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000274HP:0000274Small face0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0000274HP:0000274Small face0PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall type28
HP:0000274HP:0000274Small face0PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous type28
HP:0000274HP:0000274Small face0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan type28
HP:0000274HP:0000274Small face0RBBP8 CL E G H59329891ORPHA:808Seckel syndrome68
HP:0000274HP:0000274Small face0RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndrome445
HP:0000274HP:0000274Small face0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0000274HP:0000274Small face0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasia90
HP:0000274HP:0000274Small face0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegia1200
HP:0000274HP:0000274Small face0RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion1200
HP:0000274HP:0000274Small face0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0000274HP:0000274Small face0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0000274HP:0000274Small face0SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion144
HP:0000274HP:0000274Small face0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000274HP:0000274Small face0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0000274HP:0000274Small face0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000274HP:0000274Small face0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0000274HP:0000274Small face0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0000274HP:0000274Small face0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000274HP:0000274Small face0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0000274HP:0000274Small face0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndrome93
HP:0000274HP:0000274Small face0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0000274HP:0000274Small face0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder type19
HP:0000274HP:0000274Small face0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0000274HP:0000274Small face0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000274HP:0000274Small face0STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome6
HP:0000274HP:0000274Small face0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0SUMO1 CL E G H734112502ORPHA:99798Oligodontia8
HP:0000274HP:0000274Small face0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040282 - Frequent1
HP:0000274HP:0000274Small face0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndrome32
HP:0000274HP:0000274Small face0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndrome140
HP:0000274HP:0000274Small face0TGFA CL E G H703911765ORPHA:99798Oligodontia
HP:0000274HP:0000274Small face0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndrome37
HP:0000274HP:0000274Small face0TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndrome43
HP:0000274HP:0000274Small face0TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathy54
HP:0000274HP:0000274Small face0TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion54
HP:0000274HP:0000274Small face0TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndrome54
HP:0000274HP:0000274Small face0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0000274HP:0000274Small face0TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathy108
HP:0000274HP:0000274Small face0TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion108
HP:0000274HP:0000274Small face0TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1108
HP:0000274HP:0000274Small face0TRAIP CL E G H1029330764ORPHA:808Seckel syndrome2
HP:0000274HP:0000274Small face0TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0000274HP:0000274Small face0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0000274HP:0000274Small face0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000274HP:0000274Small face0TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0000274HP:0000274Small face0TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant66
HP:0000274HP:0000274Small face0UBB CL E G H731412463ORPHA:99772Cleft velum
HP:0000274HP:0000274Small face0UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000274HP:0000274Small face0UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman type13
HP:0000274HP:0000274Small face0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndrome33
HP:0000274HP:0000274Small face0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000274HP:0000274Small face0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000274HP:0000274Small face0WNT10A CL E G H8032613829ORPHA:99798Oligodontia71
HP:0000274HP:0000274Small face0WNT10B CL E G H748012775ORPHA:99798Oligodontia4
HP:0000274HP:0000274Small face0WRN CL E G H748612791ORPHA:902Werner syndrome310
HP:0000274HP:0000274Small face0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndrome10
HP:0000274HP:0000275Narrow face1ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional96
HP:0000274HP:0000275Narrow face1ACTA1 CL E G H58129OMIM:255310Myopathy, congenital, with fiber-type disproportion.96
HP:0000274HP:0000275Narrow face1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0000274HP:0000275Narrow face1ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome49
HP:0000274HP:0000275Narrow face1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0000274HP:0000275Narrow face1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040282 - Frequent1
HP:0000274HP:0000275Narrow face1ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000274HP:0000275Narrow face1ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0000274HP:0000275Narrow face1ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0000274HP:0011219Short face1AXIN2 CL E G H8313904ORPHA:99798OligodontiaHP:0040283 - Occasional435
HP:0000274HP:0000275Narrow face1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000274HP:0000275Narrow face1BCOR CL E G H5488020893ORPHA:2712Oculofaciocardiodental syndromeHP:0040282 - Frequent101
HP:0000274HP:0000275Narrow face1BLM CL E G H6411058ORPHA:125Bloom syndromeHP:0040282 - Frequent314
HP:0000274HP:0000275Narrow face1BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000274HP:0000275Narrow face1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0000274HP:0000275Narrow face1CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0000274HP:0000275Narrow face1CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000274HP:0000275Narrow face1CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0000274HP:0000275Narrow face1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0000274HP:0000275Narrow face1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000274HP:0000275Narrow face1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0000274HP:0000275Narrow face1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0000274HP:0000275Narrow face1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1DSTYK CL E G H2577829043OMIM:270750Spastic paraplegia 23.13
HP:0000274HP:0011219Short face1EDA CL E G H18963157ORPHA:99798OligodontiaHP:0040283 - Occasional115
HP:0000274HP:0011219Short face1EDARADD CL E G H12817814341ORPHA:99798OligodontiaHP:0040283 - Occasional56
HP:0000274HP:0000275Narrow face1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000274HP:0000275Narrow face1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0000274HP:0000275Narrow face1EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1.135
HP:0000274HP:0000275Narrow face1EYA1 CL E G H21383519OMIM:166780Otofaciocervical syndrome135
HP:0000274HP:0000275Narrow face1FBN1 CL E G H22003603OMIM:154700Marfan syndrome.1361
HP:0000274HP:0000275Narrow face1FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0000274HP:0011219Short face1FGFR1 CL E G H22603688ORPHA:99798OligodontiaHP:0040283 - Occasional172
HP:0000274HP:0000275Narrow face1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0000274HP:0011219Short face1GRHL3 CL E G H5782225839ORPHA:99772Cleft velumHP:0040283 - Occasional12
HP:0000274HP:0000275Narrow face1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000274HP:0000275Narrow face1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000274HP:0000275Narrow face1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000274HP:0000275Narrow face1HYOU1 CL E G H1052516931OMIM:233600Immunodeficiency 59 and hypoglycemia.
HP:0000274HP:0011219Short face1IRF6 CL E G H36646121ORPHA:99798OligodontiaHP:0040283 - Occasional99
HP:0000274HP:0000275Narrow face1KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional80
HP:0000274HP:0000275Narrow face1KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional13
HP:0000274HP:0000275Narrow face1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0000274HP:0000275Narrow face1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000274HP:0000275Narrow face1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000274HP:0000275Narrow face1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0000274HP:0011219Short face1LRP6 CL E G H40406698ORPHA:99798OligodontiaHP:0040283 - Occasional26
HP:0000274HP:0000275Narrow face1MAP2K2 CL E G H56056842OMIM:615280Cardiofaciocutaneous syndrome 4178
HP:0000274HP:0000275Narrow face1MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent228
HP:0000274HP:0000275Narrow face1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000274HP:0000275Narrow face1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000274HP:0000275Narrow face1MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000274HP:0000275Narrow face1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000274HP:0011219Short face1MSX1 CL E G H44877391ORPHA:99798OligodontiaHP:0040283 - Occasional12
HP:0000274HP:0000275Narrow face1MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0000274HP:0000275Narrow face1MYH3 CL E G H46217573ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent166
HP:0000274HP:0000275Narrow face1MYH7 CL E G H46257577OMIM:255310Myopathy, congenital, with fiber-type disproportion.1269
HP:0000274HP:0000275Narrow face1MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional217
HP:0000274HP:0000275Narrow face1NALCN CL E G H25923219082ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent48
HP:0000274HP:0000275Narrow face1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000274HP:0000275Narrow face1NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional745
HP:0000274HP:0000275Narrow face1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0000274HP:0000275Narrow face1NFIX CL E G H47847788ORPHA:420179Malan overgrowth syndromeHP:0040282 - Frequent40
HP:0000274HP:0000275Narrow face1NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000274HP:0000275Narrow face1NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000274HP:0000275Narrow face1NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000274HP:0000275Narrow face1NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 1.22
HP:0000274HP:0000275Narrow face1NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040281 - Very frequent144
HP:0000274HP:0000275Narrow face1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040282 - Frequent544
HP:0000274HP:0000275Narrow face1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000274HP:0000275Narrow face1NSDHL CL E G H5081413398OMIM:300831Ck syndrome.34
HP:0000274HP:0000275Narrow face1NSDHL CL E G H5081413398ORPHA:251383CK syndromeHP:0040281 - Very frequent34
HP:0000274HP:0000275Narrow face1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000274HP:0000275Narrow face1NSUN2 CL E G H5488825994OMIM:611091Mental retardation, autosomal recessive 5.84
HP:0000274HP:0000275Narrow face1NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndromeHP:0040281 - Very frequent59
HP:0000274HP:0011219Short face1PAX9 CL E G H50838623ORPHA:99798OligodontiaHP:0040283 - Occasional58
HP:0000274HP:0000275Narrow face1PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000274HP:0000275Narrow face1PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0000274HP:0000275Narrow face1PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0000274HP:0011219Short face1POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent
HP:0000274HP:0011219Short face1POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent38
HP:0000274HP:0011219Short face1POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent31
HP:0000274HP:0000275Narrow face1PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional2
HP:0000274HP:0000275Narrow face1PQBP1 CL E G H100849330OMIM:309500Renpenning syndromeHP:0003621 - Juvenile onset28
HP:0000274HP:0000275Narrow face1PQBP1 CL E G H100849330ORPHA:93947X-linked intellectual disability, Golabi-Ito-Hall typeHP:0040281 - Very frequent28
HP:0000274HP:0000275Narrow face1PQBP1 CL E G H100849330ORPHA:93945X-linked intellectual disability, Porteous typeHP:0040282 - Frequent28
HP:0000274HP:0000275Narrow face1PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040283 - Occasional28
HP:0000274HP:0000275Narrow face1RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0000274HP:0000275Narrow face1RECQL4 CL E G H94019949ORPHA:1225Baller-Gerold syndromeHP:0040283 - Occasional445
HP:0000274HP:0000275Narrow face1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000274HP:0011219Short face1RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000274HP:0000275Narrow face1RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0000274HP:0000275Narrow face1RYR1 CL E G H626110483OMIM:255310Myopathy, congenital, with fiber-type disproportion.1200
HP:0000274HP:0000275Narrow face1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000274HP:0000275Narrow face1SELENON CL E G H5719015999OMIM:255310Myopathy, congenital, with fiber-type disproportion.144
HP:0000274HP:0000275Narrow face1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000274HP:0000275Narrow face1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040282 - Frequent60
HP:0000274HP:0000275Narrow face1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000274HP:0000275Narrow face1SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 1.50
HP:0000274HP:0000275Narrow face1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0000274HP:0000275Narrow face1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000274HP:0000275Narrow face1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000274HP:0000275Narrow face1SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0000274HP:0000275Narrow face1SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type.93
HP:0000274HP:0000275Narrow face1SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0000274HP:0000275Narrow face1STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000274HP:0000275Narrow face1STRADA CL E G H9233530172ORPHA:500533Polyhydramnios-megalencephaly-symptomatic epilepsy syndromeHP:0040283 - Occasional6
HP:0000274HP:0000275Narrow face1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0011219Short face1SUMO1 CL E G H734112502ORPHA:99798OligodontiaHP:0040283 - Occasional8
HP:0000274HP:0000275Narrow face1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040282 - Frequent32
HP:0000274HP:0011219Short face1TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent140
HP:0000274HP:0011219Short face1TGFA CL E G H703911765ORPHA:99798OligodontiaHP:0040283 - Occasional
HP:0000274HP:0000275Narrow face1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0000275Narrow face1TNNI2 CL E G H713611946ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent37
HP:0000274HP:0000275Narrow face1TNNT3 CL E G H714011950ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent43
HP:0000274HP:0000275Narrow face1TPM2 CL E G H716912011ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional54
HP:0000274HP:0000275Narrow face1TPM2 CL E G H716912011OMIM:255310Myopathy, congenital, with fiber-type disproportion.54
HP:0000274HP:0000275Narrow face1TPM2 CL E G H716912011ORPHA:1147Sheldon-Hall syndromeHP:0040282 - Frequent54
HP:0000274HP:0000275Narrow face1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0000274HP:0000275Narrow face1TPM3 CL E G H717012012ORPHA:171439Childhood-onset nemaline myopathyHP:0040283 - Occasional108
HP:0000274HP:0000275Narrow face1TPM3 CL E G H717012012OMIM:255310Myopathy, congenital, with fiber-type disproportion.108
HP:0000274HP:0000275Narrow face1TPM3 CL E G H717012012OMIM:609284Nemaline myopathy 1.108
HP:0000274HP:0000275Narrow face1TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0000274HP:0000275Narrow face1TRAIP CL E G H1029330764OMIM:616777Seckel syndrome 92
HP:0000274HP:0000275Narrow face1TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000274HP:0000275Narrow face1TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040283 - Occasional7
HP:0000274HP:0000275Narrow face1TSPAN7 CL E G H710211854OMIM:300210MENTAL RETARDATION, X-LINKED 58; MRX5826
HP:0000274HP:0000275Narrow face1TUBB4A CL E G H1038220774OMIM:128101Dystonia 4, torsion, autosomal dominant.66
HP:0000274HP:0011219Short face1UBB CL E G H731412463ORPHA:99772Cleft velumHP:0040283 - Occasional
HP:0000274HP:0000275Narrow face1UBE3B CL E G H8991013478OMIM:244450Kaufman oculocerebrofacial syndrome13
HP:0000274HP:0000275Narrow face1UBE3B CL E G H8991013478ORPHA:2707Oculocerebrofacial syndrome, Kaufman typeHP:0040282 - Frequent13
HP:0000274HP:0000275Narrow face1UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent33
HP:0000274HP:0000275Narrow face1UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000274HP:0000275Narrow face1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000274HP:0011219Short face1WNT10A CL E G H8032613829ORPHA:99798OligodontiaHP:0040283 - Occasional71
HP:0000274HP:0011219Short face1WNT10B CL E G H748012775ORPHA:99798OligodontiaHP:0040283 - Occasional4
HP:0000274HP:0000275Narrow face1WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0000274HP:0000275Narrow face1ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent10


Genes (134) :ACTA1 ANTXR2 AP4E1 APC2 ATP7A ATR ATRIP AXIN2 B3GAT3 B4GALT7 BAZ1B BCL7B BCOR BLM BUD23 CENPE CENPJ CENPT CEP152 CFL2 CHD7 CHRNB1 CHST3 CLIP2 COL18A1 DDX11 DNAJC30 DSTYK EDA EDARADD EIF4H ELN ERCC4 EYA1 FBN1 FBXL4 FGFR1 FGFR3 FKBP6 FLNA FMR1 GHR GRHL3 GTF2I GTF2IRD1 GTF2IRD2 HYOU1 INSR IRF6 KBTBD13 KLHL41 LIG4 LIMK1 LMNA LMOD3 LRP6 MAP2K2 MED12 METTL27 MICU1 MLXIPL MSX1 MTM1 MYH3 MYH7 MYPN NALCN NCF1 NEB NFIX NGLY1 NHS NOG NOTCH3 NSD1 NSDHL NSUN2 NUP85 PAX3 PAX9 PBX1 PCNT PLK4 POLR1B POLR1C POLR1D PPP1R15B PQBP1 RBBP8 RECQL4 RFC2 RLIM RUNX2 RYR1 SATB2 SCN3A SELENON SEMA3E SETD2 SIN3A SIX1 SLC16A2 SLC37A4 SLC6A8 SLC9A6 SMS SOX9 STEEP1 STRADA STX1A SUMO1 TBL2 TBR1 TBX1 TCOF1 TGFA TMEM270 TNNI2 TNNT3 TPM2 TPM3 TRAIP TRIP11 TRMT10A TSPAN7 TUBB4A UBB UBE3B UPF3B VPS37D WNT10A WNT10B WRN ZDHHC9

Diseases (88) :ORPHA:171439 OMIM:255310 ORPHA:171436 OMIM:228600 OMIM:613744 ORPHA:821 OMIM:304150 ORPHA:808 ORPHA:99798 OMIM:245600 OMIM:130070 ORPHA:904 OMIM:300166 ORPHA:2712 OMIM:210900 ORPHA:125 OMIM:618702 ORPHA:138 OMIM:616313 OMIM:267750 OMIM:613398 OMIM:270750 OMIM:610965 OMIM:113650 OMIM:166780 OMIM:154700 OMIM:615471 OMIM:187600 OMIM:187601 OMIM:309350 ORPHA:908 OMIM:262500 ORPHA:99772 OMIM:233600 OMIM:246200 ORPHA:235 ORPHA:79474 OMIM:615280 OMIM:309520 ORPHA:776 OMIM:615673 OMIM:310400 ORPHA:1147 ORPHA:420179 OMIM:614753 OMIM:615273 OMIM:302350 OMIM:186500 ORPHA:2789 OMIM:117550 ORPHA:251383 OMIM:300831 OMIM:611091 ORPHA:1529 OMIM:617641 ORPHA:861 ORPHA:391408 OMIM:309500 ORPHA:93947 ORPHA:93945 ORPHA:93950 ORPHA:1225 OMIM:300978 ORPHA:1452 ORPHA:98905 ORPHA:251028 OMIM:617935 OMIM:613406 ORPHA:59 OMIM:619525 OMIM:300352 ORPHA:85278 OMIM:300243 ORPHA:3063 OMIM:114290 OMIM:301013 ORPHA:500533 ORPHA:1617 ORPHA:1727 OMIM:609284 OMIM:616777 OMIM:184260 OMIM:300210 OMIM:128101 OMIM:244450 ORPHA:2707 OMIM:300676 ORPHA:902
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.